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Results 1 - 3 of 3 for Combined oxidative phosphorylation defect type 9
  1. Combined oxidative phosphorylation deficiency 1 
    ... COXPD1 Early fatal progressive hepatoencephalopathy Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Genetic Testing Registry: Hepatoencephalopathy due to combined ...
    https://medlineplus.gov/...ed-oxidative-phosphorylation-deficiency-1 - Genetics
  2. Primary coenzyme Q10 deficiency 
    ... plays an essential role in a process called oxidative phosphorylation, which converts the energy from food into a ... that a shortage (deficiency) of coenzyme Q10 impairs oxidative phosphorylation and increases the vulnerability of cells to damage ...
    https://medlineplus.gov/.../primary-coenzyme-q10-deficiency - Genetics
  3. RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy 
    ... essential for the process of energy production (called oxidative phosphorylation). The production of nucleotides by p53R2 helps maintain ... Disorders (NORD) MITOCHONDRIAL DNA DEPLETION SYNDROME 8A ... syndrome due to mutations in the RRM2B gene. Neuromuscul Disord. 2008 Jun;18(6):453-9. doi: 10.1016/j.nmd.2008.04.006. ...
    https://medlineplus.gov/...halomyopathic-form-with-renal-tubulopathy - Genetics